Mutagenetix > Incidental Mutation

Incidental Mutation 'R5043:Tecpr1'

393296

Institutional Source

Beutler Lab

Gene Symbol

Tecpr1

Ensembl Gene

ENSMUSG00000066621

Gene Name

tectonin beta-propeller repeat containing 1

Synonyms

MMRRC Submission

042633-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144194442-144223615 bp(-) (GRCm38)

Type of Mutation

splice site (38 bp from exon)

DNA Base Change (assembly)

T to C at 144197854 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000082844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060747] [ENSMUST00000085701]

AlphaFold

Q80VP0

Predicted Effect

probably benign
Transcript: ENSMUST00000060747

SMART Domains

Protein: ENSMUSP00000055493
Gene: ENSMUSG00000052271

Domain	Start	End	E-Value	Type
low complexity region	6	13	N/A	INTRINSIC
low complexity region	41	67	N/A	INTRINSIC
HLH	78	130	1.61e-18	SMART
low complexity region	136	148	N/A	INTRINSIC
low complexity region	151	166	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000085701

SMART Domains

Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621

Domain	Start	End	E-Value	Type
TECPR	23	59	8.98e1	SMART
DysFN	64	125	6.72e-24	SMART
DysFC	137	170	1.89e-9	SMART
TECPR	192	225	1.79e-1	SMART
TECPR	234	270	2.5e-9	SMART
TECPR	279	317	4.99e-9	SMART
TECPR	326	361	2.42e-7	SMART
low complexity region	381	394	N/A	INTRINSIC
PH	614	724	1.69e-2	SMART
TECPR	711	750	1.88e-4	SMART
TECPR	766	800	3.27e-4	SMART
DysFN	821	882	2.95e-20	SMART
DysFC	893	926	1.66e-14	SMART
TECPR	940	974	1.69e1	SMART
TECPR	983	1019	1.45e-5	SMART
TECPR	1028	1065	1.51e-8	SMART
TECPR	1074	1109	1.59e-2	SMART
low complexity region	1125	1137	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153103

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 145,044,100 (GRCm38)	Y106*	probably null	Het
Acsbg3	A	G	17: 56,885,198 (GRCm38)	Y587C	probably damaging	Het
Akap12	G	C	10: 4,355,047 (GRCm38)	G619A	probably damaging	Het
Arhgap29	A	G	3: 121,974,004 (GRCm38)	K32E	probably benign	Het
Capg	T	A	6: 72,558,254 (GRCm38)	Y253*	probably null	Het
Cntnap3	A	T	13: 64,794,348 (GRCm38)	F189L	probably damaging	Het
Cp	T	C	3: 19,973,917 (GRCm38)	S496P	probably benign	Het
Cxcl11	T	C	5: 92,363,152 (GRCm38)		probably null	Het
Dennd3	T	C	15: 73,527,936 (GRCm38)	L217P	probably benign	Het
Dip2c	G	T	13: 9,551,827 (GRCm38)	R274L	possibly damaging	Het
Dnah12	C	T	14: 26,884,190 (GRCm38)	S3776L	probably damaging	Het
Emcn	A	G	3: 137,391,601 (GRCm38)	T94A	possibly damaging	Het
Fnip2	A	T	3: 79,492,867 (GRCm38)	Y397*	probably null	Het
Gabrp	T	C	11: 33,568,072 (GRCm38)	N79D	probably benign	Het
Glmp	T	G	3: 88,326,676 (GRCm38)		probably benign	Het
Gm5921	C	T	9: 115,438,019 (GRCm38)		noncoding transcript	Het
Gm6483	A	G	8: 19,693,670 (GRCm38)	T104A	probably benign	Het
Ifi206	A	T	1: 173,486,718 (GRCm38)	M52K	probably damaging	Het
Iqcc	T	C	4: 129,618,277 (GRCm38)		probably benign	Het
Klra2	T	A	6: 131,220,172 (GRCm38)	H288L	probably benign	Het
Myo5b	T	C	18: 74,638,153 (GRCm38)		probably null	Het
Nisch	A	G	14: 31,176,465 (GRCm38)		probably benign	Het
Nlrp4c	A	G	7: 6,066,825 (GRCm38)	N575S	probably benign	Het
Or1n2	A	C	2: 36,906,965 (GRCm38)	R6S	probably benign	Het
Or8b49	A	G	9: 38,594,841 (GRCm38)	I207V	probably damaging	Het
Phlda1	T	A	10: 111,507,291 (GRCm38)	L296Q	unknown	Het
Pramel19	T	C	4: 101,940,524 (GRCm38)	F40L	possibly damaging	Het
Rab36	G	A	10: 75,051,005 (GRCm38)	E182K	probably benign	Het
Rasa3	G	A	8: 13,570,368 (GRCm38)	T767M	possibly damaging	Het
Serpinb11	G	A	1: 107,369,465 (GRCm38)	V24M	probably damaging	Het
Slc7a14	T	G	3: 31,237,466 (GRCm38)	N221T	probably damaging	Het
Smg6	T	C	11: 74,929,895 (GRCm38)	S331P	possibly damaging	Het
Snx1	C	T	9: 66,097,436 (GRCm38)	A183T	probably benign	Het
Srpk2	T	C	5: 23,524,517 (GRCm38)	T375A	probably benign	Het
Topaz1	A	T	9: 122,748,404 (GRCm38)	E126D	probably benign	Het
Ugt2b1	C	G	5: 86,917,644 (GRCm38)	C512S	possibly damaging	Het
Ugt2b37	C	T	5: 87,251,860 (GRCm38)	W263*	probably null	Het
Utp20	A	T	10: 88,798,746 (GRCm38)	M750K	possibly damaging	Het
Yeats2	A	T	16: 20,208,465 (GRCm38)	Q822L	probably damaging	Het
Zfp609	T	C	9: 65,700,827 (GRCm38)	Y1257C	probably damaging	Het

Other mutations in Tecpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Tecpr1	APN	5	144,208,593 (GRCm38)	critical splice donor site	probably null
IGL01774:Tecpr1	APN	5	144,211,540 (GRCm38)	missense	probably damaging	0.97
IGL01960:Tecpr1	APN	5	144,216,919 (GRCm38)	missense	probably benign	0.00
IGL01973:Tecpr1	APN	5	144,197,988 (GRCm38)	splice site	probably benign
IGL02244:Tecpr1	APN	5	144,210,003 (GRCm38)	missense	probably benign
IGL02247:Tecpr1	APN	5	144,206,554 (GRCm38)	missense	possibly damaging	0.64
IGL02423:Tecpr1	APN	5	144,203,487 (GRCm38)	missense	possibly damaging	0.88
IGL02679:Tecpr1	APN	5	144,206,546 (GRCm38)	missense	probably benign	0.28
larghissimo	UTSW	5	144,217,257 (GRCm38)	missense	probably damaging	1.00
PIT4531001:Tecpr1	UTSW	5	144,214,067 (GRCm38)	missense	probably damaging	0.96
R0121:Tecpr1	UTSW	5	144,210,199 (GRCm38)	missense	probably benign	0.02
R0125:Tecpr1	UTSW	5	144,197,899 (GRCm38)	missense	probably damaging	1.00
R0194:Tecpr1	UTSW	5	144,218,517 (GRCm38)	missense	probably damaging	1.00
R0376:Tecpr1	UTSW	5	144,207,476 (GRCm38)	missense	possibly damaging	0.94
R0441:Tecpr1	UTSW	5	144,195,941 (GRCm38)	missense	probably benign
R0504:Tecpr1	UTSW	5	144,214,081 (GRCm38)	missense	probably damaging	0.99
R0538:Tecpr1	UTSW	5	144,206,274 (GRCm38)	missense	probably damaging	0.99
R0586:Tecpr1	UTSW	5	144,217,401 (GRCm38)	missense	probably damaging	1.00
R0607:Tecpr1	UTSW	5	144,212,590 (GRCm38)	missense	probably damaging	1.00
R0608:Tecpr1	UTSW	5	144,211,499 (GRCm38)	missense	probably damaging	1.00
R0656:Tecpr1	UTSW	5	144,214,053 (GRCm38)	splice site	probably null
R0835:Tecpr1	UTSW	5	144,212,592 (GRCm38)	missense	possibly damaging	0.81
R1080:Tecpr1	UTSW	5	144,216,929 (GRCm38)	missense	probably damaging	1.00
R1394:Tecpr1	UTSW	5	144,206,539 (GRCm38)	missense	possibly damaging	0.77
R1597:Tecpr1	UTSW	5	144,214,310 (GRCm38)	missense	probably benign	0.00
R1663:Tecpr1	UTSW	5	144,197,944 (GRCm38)	missense	probably benign	0.17
R1785:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R1786:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R1833:Tecpr1	UTSW	5	144,208,608 (GRCm38)	missense	probably damaging	0.99
R1883:Tecpr1	UTSW	5	144,206,529 (GRCm38)	missense	probably benign	0.03
R1988:Tecpr1	UTSW	5	144,204,697 (GRCm38)	missense	possibly damaging	0.94
R2130:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R2131:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R2132:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R2133:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R2172:Tecpr1	UTSW	5	144,211,456 (GRCm38)	missense	probably benign	0.10
R2172:Tecpr1	UTSW	5	144,196,417 (GRCm38)	missense	probably damaging	1.00
R2290:Tecpr1	UTSW	5	144,214,063 (GRCm38)	missense	probably damaging	0.99
R3691:Tecpr1	UTSW	5	144,209,979 (GRCm38)	missense	probably benign	0.10
R4027:Tecpr1	UTSW	5	144,206,259 (GRCm38)	missense	probably benign	0.41
R4587:Tecpr1	UTSW	5	144,212,590 (GRCm38)	missense	probably damaging	0.96
R4684:Tecpr1	UTSW	5	144,207,437 (GRCm38)	missense	probably benign	0.16
R4864:Tecpr1	UTSW	5	144,214,117 (GRCm38)	missense	probably benign	0.00
R4932:Tecpr1	UTSW	5	144,204,658 (GRCm38)	missense	probably damaging	0.97
R4955:Tecpr1	UTSW	5	144,217,257 (GRCm38)	missense	probably damaging	1.00
R5459:Tecpr1	UTSW	5	144,207,416 (GRCm38)	missense	probably damaging	1.00
R5579:Tecpr1	UTSW	5	144,214,344 (GRCm38)	missense	possibly damaging	0.55
R5677:Tecpr1	UTSW	5	144,218,633 (GRCm38)	nonsense	probably null
R5679:Tecpr1	UTSW	5	144,207,423 (GRCm38)	missense	possibly damaging	0.69
R5802:Tecpr1	UTSW	5	144,206,546 (GRCm38)	missense	probably benign	0.28
R6000:Tecpr1	UTSW	5	144,211,421 (GRCm38)	missense	probably benign	0.02
R6022:Tecpr1	UTSW	5	144,199,191 (GRCm38)	missense	possibly damaging	0.95
R6114:Tecpr1	UTSW	5	144,204,640 (GRCm38)	missense	possibly damaging	0.81
R6251:Tecpr1	UTSW	5	144,198,576 (GRCm38)	missense	probably damaging	0.97
R6372:Tecpr1	UTSW	5	144,216,958 (GRCm38)	missense	probably damaging	1.00
R6493:Tecpr1	UTSW	5	144,209,974 (GRCm38)	missense	probably benign
R7276:Tecpr1	UTSW	5	144,217,020 (GRCm38)	nonsense	probably null
R7314:Tecpr1	UTSW	5	144,217,332 (GRCm38)	missense	probably damaging	1.00
R7375:Tecpr1	UTSW	5	144,208,599 (GRCm38)	missense	possibly damaging	0.68
R7632:Tecpr1	UTSW	5	144,218,726 (GRCm38)	missense	probably benign	0.03
R7702:Tecpr1	UTSW	5	144,203,418 (GRCm38)	missense	probably damaging	1.00
R8135:Tecpr1	UTSW	5	144,198,602 (GRCm38)	missense	probably damaging	0.99
R8406:Tecpr1	UTSW	5	144,200,840 (GRCm38)	missense	probably damaging	1.00
R8844:Tecpr1	UTSW	5	144,216,299 (GRCm38)	missense	possibly damaging	0.94
R8856:Tecpr1	UTSW	5	144,216,299 (GRCm38)	missense	possibly damaging	0.94
R8857:Tecpr1	UTSW	5	144,216,299 (GRCm38)	missense	possibly damaging	0.94
R8866:Tecpr1	UTSW	5	144,216,299 (GRCm38)	missense	possibly damaging	0.94
R8903:Tecpr1	UTSW	5	144,214,027 (GRCm38)	intron	probably benign
R8926:Tecpr1	UTSW	5	144,216,962 (GRCm38)	missense	probably damaging	1.00
R9218:Tecpr1	UTSW	5	144,217,231 (GRCm38)	missense	possibly damaging	0.70
R9423:Tecpr1	UTSW	5	144,218,578 (GRCm38)	missense	probably damaging	0.98
RF001:Tecpr1	UTSW	5	144,217,386 (GRCm38)	missense	probably damaging	0.99
Z1176:Tecpr1	UTSW	5	144,218,591 (GRCm38)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- ACTTTGCTGTTCTGACTCGG -3'
(R):5'- TTAGAGCACTGGATAGGCCTGG -3'

Sequencing Primer
(F):5'- CTGTTCTGACTCGGTCCAGG -3'
(R):5'- CACTGGATAGGCCTGGGTCTG -3'

Posted On

2016-06-15